组织工程与重建外科杂志

组织工程与重建外科杂志 ›› 2016, Vol. 12 ›› Issue (2): 128-130.doi: 10.3969/j.issn.1673-0364.2016.02.011

• 个案报道 • 上一篇    下一篇

新技术应用:对具有血管畸形且疑似NF1的患者应用基因检测技术进行明确诊断

胡晓洁，高阳，林晓曦，汤淳，李伟，陈辉，金云波，马刚，于文心，常雷，杨希，仇雅璟   

  1. 上海交通大学医学院附属第九人民医院整复外科；上海市眼病防治中心
  • 发布日期:2020-07-23

New Technology：Differential Diagnosis of NF1 and Vascular Malformation Using Gene Detection

HU Xiaojie,GAO Yang,LIN Xiaoxi,TANG Chun,LI Wei,CHEN Hui,JIN Yunbo,MA Gang,YU Wenxin,CHANG Lei,YANG Xi,QIU Yajin   

  • Published:2020-07-23

摘要： 目的 对于临床具有血管畸形且疑似NF1的患者,应用基因检测方法进行诊断与鉴别诊断。方法 患儿10岁,右小腿皮肤散在红斑、增粗1年,无明显边界。CT提示网状毛细血管以及浅静脉血管分支增多增粗,疑似静脉畸形。躯干四肢散在多发的牛奶咖啡斑,直径大于1.5 cm,数量超过6个,仅该项符合NIH关于NF1的诊断临床表现,其余症状皆不典型,无法确诊NF1。遂尝试进行NF1基因检测。结果 NF1的DNA测序发现无义突变,c.C4006C>T,p.Gln 1336*(杂合),支持NF1的诊断。结论 临床表现不典型的患者,无法依据NIH标准确诊时,可进行NF1基因检测,帮助临床诊断。

关键词: 神经纤维瘤病, 基因检测, 血管畸形

Abstract: Objective To explore the differential diagnosis of NF1 and vascular malformation using genetic testing. Methods A 10-year old boy’s right calf, with scattered erythema, has enlarged without definite boundaries for one year. More than 6 Café au lait, with diameter larger than 1.5 cm, scattered all over the trunk and limbs. CT: capillaries and superficial vein of right calf increased and enlarged, with an impression of tendency to venous malformations. In accordance with NF1 diagnosis criterion, it could not be diagnosed as NF1 without other typical symptom except caf é au lait. Then NF1 gene detection was performed. Results NF1 nonsense mutations was detected after DNA sequencing, c.C. 4006 C>T, p.Gln 1336 * (hybrid), supporting for NF1 diagnosis. Conclusion Genetic testing can be performed to help the diagnosis for the patients with atypical clinical manifestations.

Key words: Neurofibromatosis, Gene test, Vascular malformation

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